{"orpha":2639,"name":"Fibular aplasia-complex brachydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Du Pan syndrome"],"definition":"A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>GDF5</i>).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2639/","orphanet_url":"https://www.orpha.net/en/disease/detail/2639","names":{"fr":{"name":"Syndrome d'aplasie du péroné-brachydactylie","synonyms":["Syndrome de Du Pan"],"definition":"Syndrome rate caractérisé par l'absence ou l'aplasie sévère du péroné et par une brachydactylie complexe. Moins de 30 cas ont été décrits à ce jour. Ce syndrome se transmet sur le mode autosomique récessif et est dû à des mutations du gène <i>GDF5</i> (pour <i>cartilage-derived morphogenetic protein-1</i>)."},"de":{"name":"Syndrom der Fibula-Aplasie mit komplexer Brachydaktylie","synonyms":["Du Pan-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch stark reduzierte oder fehlende Fibula und durch komplexe Brachydaktylie."},"es":{"name":"Síndrome de aplasia del peroné-braquidactilia compleja","synonyms":["Síndrome de Du Pan"],"definition":"Es un síndrome poco frecuente caracterizado por una grave reducción o ausencia del peroné y braquidactilia compleja. Hasta el momento, la literatura ha descrito menos de 30 casos. Este síndrome se hereda de forma autosómica recesiva y está causado por mutaciones en el gen de la proteína-1 morfogenética derivada del cartílago (<i>GDF5</i>)."},"it":{"name":"Aplasia del perone - brachidattilia","synonyms":["Sindrome di Du Pan"]},"nl":{"name":"Fibula-aplasie - complexe brachydactylie-syndroom","synonyms":["Syndroom van Du Pan"],"definition":"Een zeldzaam syndroom gekarakteriseerd door ernstige reductie of afwezigheid van de kuitbeenderen en complexe brachydactylie. Tot op heden werden minder dan 30 gevallen beschreven in de literatuur. Het syndroom wordt overgeërfd op een autosomaal recessieve manier en wordt veroorzaakt door mutaties in het gen voor van kraakbeen afgeleid morfogenetisch proteïne-1 (<i>GDF5</i>)."},"pt":{"name":"Síndrome de aplasia do perónio-complexo braquidactilia","synonyms":["Síndrome Du Pan"]},"pl":{"name":"Aplazja kości strzałkowej - złożona brachydaktylia","synonyms":["Zespół Du Pan"]},"cs":{"name":"Syndrom zahrnující fibulární aplázii a komplexní brachydaktylii","synonyms":["Du Panův syndrom"]},"uk":{"name":"Синдром фібулярної аплазії-комплексної брахідактилії","synonyms":["Синдром Дюпана"],"definition":"A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>GDF5</i>)."},"zh":{"name":"腓骨发育不全-复杂短指综合征","synonyms":["Du Pan综合征"]},"tr":{"name":"Fibüler aplazi-kompleks brakidaktili sendromu","synonyms":["Du Pan sendromu"]}},"xrefs":[{"source":"OMIM","code":"228900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q73.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1776518998"},{"source":"MONDO","code":"0009231","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9231","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537931","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856738","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9879","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93437,"name":"Acromesomelic dysplasia","classifications":[147,156,199]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[{"symbol":"GDF5","name":"growth differentiation factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16222676[PMID]","hgnc":"4220","ensembl":"ENSG00000125965","omim":"601146","loci":["20q11.22"]},{"symbol":"BMPR1B","name":"bone morphogenetic protein receptor type 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26105076[PMID]","hgnc":"1077","ensembl":"ENSG00000138696","omim":"603248","loci":["4q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"37064338[PMID]_2624264[PMID]_2363425[PMID]_16222676[PMID]_18629880[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"37064338[PMID]_2624264[PMID]_2363425[PMID]_16222676[PMID]_18629880[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006492","label":"Aplasia/Hypoplasia of the fibula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Very frequent (99-80%)","criteria":null}]}}